Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 |
R-numbers: R58 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770 |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nasu-Hakola disease 221770 |